SNP Links for Protein (Select 209447096) - SNP

Select item 14894519371.

rs1489451937 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:71746219 (GRCh38)
9:74361135 (GRCh37)
Canonical SPDI:: NC_000009.12:71746218:T:C
Gene:: CEMIP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000009.12:g.71746219T>C, NC_000009.11:g.74361135T>C, NG_053053.1:g.28314A>G, NM_013390.3:c.454A>G, NM_013390.2:c.454A>G, NM_001349784.2:c.-1427A>G, NM_001349784.1:c.-1427A>G, NM_001135820.2:c.454A>G, NM_001135820.1:c.454A>G, XM_005251869.5:c.454A>G, XM_005251869.4:c.454A>G, XM_005251869.3:c.454A>G, XM_005251869.2:c.454A>G, XM_005251869.1:c.454A>G, XM_047423137.1:c.-230A>G, XM_047423136.1:c.454A>G, NP_037522.1:p.Ile152Val, NP_001129292.1:p.Ile152Val, XP_005251926.1:p.Ile152Val, XP_047279092.1:p.Ile152Val

Select item 14889454532.

rs1488945453 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:71746276 (GRCh38)
9:74361192 (GRCh37)
Canonical SPDI:: NC_000009.12:71746275:C:T
Gene:: CEMIP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.71746276C>T, NC_000009.11:g.74361192C>T, NG_053053.1:g.28257G>A, NM_013390.3:c.397G>A, NM_013390.2:c.397G>A, NM_001349784.2:c.-1484G>A, NM_001349784.1:c.-1484G>A, NM_001135820.2:c.397G>A, NM_001135820.1:c.397G>A, XM_005251869.5:c.397G>A, XM_005251869.4:c.397G>A, XM_005251869.3:c.397G>A, XM_005251869.2:c.397G>A, XM_005251869.1:c.397G>A, XM_047423137.1:c.-287G>A, XM_047423136.1:c.397G>A, NP_037522.1:p.Val133Ile, NP_001129292.1:p.Val133Ile, XP_005251926.1:p.Val133Ile, XP_047279092.1:p.Val133Ile

Select item 14869721933.

rs1486972193 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:71709411 (GRCh38)
9:74324327 (GRCh37)
Canonical SPDI:: NC_000009.12:71709410:C:T
Gene:: CEMIP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.71709411C>T, NC_000009.11:g.74324327C>T, NG_053053.1:g.65122G>A, NM_013390.3:c.2833G>A, NM_013390.2:c.2833G>A, NM_001349784.2:c.919G>A, NM_001349784.1:c.919G>A, NM_001135820.2:c.2644G>A, NM_001135820.1:c.2644G>A, XM_005251869.5:c.2833G>A, XM_005251869.4:c.2833G>A, XM_005251869.3:c.2833G>A, XM_005251869.2:c.2833G>A, XM_005251869.1:c.2833G>A, XM_047423137.1:c.2194G>A, XM_047423136.1:c.2644G>A, NP_037522.1:p.Asp945Asn, NP_001336713.1:p.Asp307Asn, NP_001129292.1:p.Asp882Asn, XP_005251926.1:p.Asp945Asn, XP_047279093.1:p.Asp732Asn, XP_047279092.1:p.Asp882Asn

Select item 14864926944.

rs1486492694 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 9:71704740 (GRCh38)
9:74319656 (GRCh37)
Canonical SPDI:: NC_000009.12:71704739:A:T
Gene:: CEMIP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.71704740A>T, NC_000009.11:g.74319656A>T, NG_053053.1:g.69793T>A, NM_013390.3:c.3049T>A, NM_013390.2:c.3049T>A, NM_001349784.2:c.1135T>A, NM_001349784.1:c.1135T>A, NM_001135820.2:c.2860T>A, NM_001135820.1:c.2860T>A, XM_005251869.5:c.3049T>A, XM_005251869.4:c.3049T>A, XM_005251869.3:c.3049T>A, XM_005251869.2:c.3049T>A, XM_005251869.1:c.3049T>A, XM_047423137.1:c.2410T>A, XM_047423136.1:c.2860T>A, NP_037522.1:p.Ser1017Thr, NP_001336713.1:p.Ser379Thr, NP_001129292.1:p.Ser954Thr, XP_005251926.1:p.Ser1017Thr, XP_047279093.1:p.Ser804Thr, XP_047279092.1:p.Ser954Thr

Select item 14863137855.

rs1486313785 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:71700819 (GRCh38)
9:74315735 (GRCh37)
Canonical SPDI:: NC_000009.12:71700818:T:C
Gene:: CEMIP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.71700819T>C, NC_000009.11:g.74315735T>C, NG_053053.1:g.73714A>G, NM_013390.3:c.3200A>G, NM_013390.2:c.3200A>G, NM_001349784.2:c.1286A>G, NM_001349784.1:c.1286A>G, NM_001135820.2:c.3011A>G, NM_001135820.1:c.3011A>G, XM_005251869.5:c.3200A>G, XM_005251869.4:c.3200A>G, XM_005251869.3:c.3200A>G, XM_005251869.2:c.3200A>G, XM_005251869.1:c.3200A>G, XM_047423137.1:c.2561A>G, XM_047423136.1:c.3011A>G, NP_037522.1:p.Asp1067Gly, NP_001336713.1:p.Asp429Gly, NP_001129292.1:p.Asp1004Gly, XP_005251926.1:p.Asp1067Gly, XP_047279093.1:p.Asp854Gly, XP_047279092.1:p.Asp1004Gly

Select item 14856578126.

rs1485657812 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 9:71694606 (GRCh38)
9:74309522 (GRCh37)
Canonical SPDI:: NC_000009.12:71694605:A:C
Gene:: CEMIP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.71694606A>C, NC_000009.11:g.74309522A>C, NG_053053.1:g.79927T>G, NM_013390.3:c.3599T>G, NM_013390.2:c.3599T>G, NM_001349784.2:c.1685T>G, NM_001349784.1:c.1685T>G, NM_001135820.2:c.3410T>G, NM_001135820.1:c.3410T>G, XM_005251869.5:c.3599T>G, XM_005251869.4:c.3599T>G, XM_005251869.3:c.3599T>G, XM_005251869.2:c.3599T>G, XM_005251869.1:c.3599T>G, XM_047423137.1:c.2960T>G, XM_047423136.1:c.3410T>G, NP_037522.1:p.Val1200Gly, NP_001336713.1:p.Val562Gly, NP_001129292.1:p.Val1137Gly, XP_005251926.1:p.Val1200Gly, XP_047279093.1:p.Val987Gly, XP_047279092.1:p.Val1137Gly

Select item 14852117147.

rs1485211714 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:71750251 (GRCh38)
9:74365167 (GRCh37)
Canonical SPDI:: NC_000009.12:71750250:T:C
Gene:: CEMIP2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.71750251T>C, NC_000009.11:g.74365167T>C, NG_053053.1:g.24282A>G, NM_013390.3:c.123A>G, NM_013390.2:c.123A>G, NM_001349784.2:c.-1758A>G, NM_001349784.1:c.-1758A>G, NM_001135820.2:c.123A>G, NM_001135820.1:c.123A>G, XM_005251869.5:c.123A>G, XM_005251869.4:c.123A>G, XM_005251869.3:c.123A>G, XM_005251869.2:c.123A>G, XM_005251869.1:c.123A>G, XM_047423136.1:c.123A>G

Select item 14840328128.

rs1484032812 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 9:71714934 (GRCh38)
9:74329850 (GRCh37)
Canonical SPDI:: NC_000009.12:71714933:C:G,NC_000009.12:71714933:C:T
Gene:: CEMIP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.71714934C>G, NC_000009.12:g.71714934C>T, NC_000009.11:g.74329850C>G, NC_000009.11:g.74329850C>T, NG_053053.1:g.59599G>C, NG_053053.1:g.59599G>A, NM_013390.3:c.2591G>C, NM_013390.3:c.2591G>A, NM_013390.2:c.2591G>C, NM_013390.2:c.2591G>A, NM_001349784.2:c.677G>C, NM_001349784.2:c.677G>A, NM_001349784.1:c.677G>C, NM_001349784.1:c.677G>A, NM_001135820.2:c.2402G>C, NM_001135820.2:c.2402G>A, NM_001135820.1:c.2402G>C, NM_001135820.1:c.2402G>A, XM_005251869.5:c.2591G>C, XM_005251869.5:c.2591G>A, XM_005251869.4:c.2591G>C, XM_005251869.4:c.2591G>A, XM_005251869.3:c.2591G>C, XM_005251869.3:c.2591G>A, XM_005251869.2:c.2591G>C, XM_005251869.2:c.2591G>A, XM_005251869.1:c.2591G>C, XM_005251869.1:c.2591G>A, XM_047423137.1:c.1952G>C, XM_047423137.1:c.1952G>A, XM_047423136.1:c.2402G>C, XM_047423136.1:c.2402G>A, NP_037522.1:p.Arg864Thr, NP_037522.1:p.Arg864Lys, NP_001336713.1:p.Arg226Thr, NP_001336713.1:p.Arg226Lys, NP_001129292.1:p.Arg801Thr, NP_001129292.1:p.Arg801Lys, XP_005251926.1:p.Arg864Thr, XP_005251926.1:p.Arg864Lys, XP_047279093.1:p.Arg651Thr, XP_047279093.1:p.Arg651Lys, XP_047279092.1:p.Arg801Thr, XP_047279092.1:p.Arg801Lys

Select item 14828835979.

rs1482883597 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 9:71740183 (GRCh38)
9:74355099 (GRCh37)
Canonical SPDI:: NC_000009.12:71740182:T:C,NC_000009.12:71740182:T:G
Gene:: CEMIP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.71740183T>C, NC_000009.12:g.71740183T>G, NC_000009.11:g.74355099T>C, NC_000009.11:g.74355099T>G, NG_053053.1:g.34350A>G, NG_053053.1:g.34350A>C, NM_013390.3:c.1084A>G, NM_013390.3:c.1084A>C, NM_013390.2:c.1084A>G, NM_013390.2:c.1084A>C, NM_001349784.2:c.-797A>G, NM_001349784.2:c.-797A>C, NM_001349784.1:c.-797A>G, NM_001349784.1:c.-797A>C, NM_001135820.2:c.1084A>G, NM_001135820.2:c.1084A>C, NM_001135820.1:c.1084A>G, NM_001135820.1:c.1084A>C, XM_005251869.5:c.1084A>G, XM_005251869.5:c.1084A>C, XM_005251869.4:c.1084A>G, XM_005251869.4:c.1084A>C, XM_005251869.3:c.1084A>G, XM_005251869.3:c.1084A>C, XM_005251869.2:c.1084A>G, XM_005251869.2:c.1084A>C, XM_005251869.1:c.1084A>G, XM_005251869.1:c.1084A>C, XM_047423137.1:c.445A>G, XM_047423137.1:c.445A>C, XM_047423136.1:c.1084A>G, XM_047423136.1:c.1084A>C, NP_037522.1:p.Asn362Asp, NP_037522.1:p.Asn362His, NP_001129292.1:p.Asn362Asp, NP_001129292.1:p.Asn362His, XP_005251926.1:p.Asn362Asp, XP_005251926.1:p.Asn362His, XP_047279093.1:p.Asn149Asp, XP_047279093.1:p.Asn149His, XP_047279092.1:p.Asn362Asp, XP_047279092.1:p.Asn362His

Select item 148287576310.

rs1482875763 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 9:71730062 (GRCh38)
9:74344978 (GRCh37)
Canonical SPDI:: NC_000009.12:71730061:A:C
Gene:: CEMIP2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000031/1 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000009.12:g.71730062A>C, NC_000009.11:g.74344978A>C, NG_053053.1:g.44471T>G, NM_013390.3:c.1965T>G, NM_013390.2:c.1965T>G, NM_001349784.2:c.51T>G, NM_001349784.1:c.51T>G, NM_001135820.2:c.1776T>G, NM_001135820.1:c.1776T>G, XM_005251869.5:c.1965T>G, XM_005251869.4:c.1965T>G, XM_005251869.3:c.1965T>G, XM_005251869.2:c.1965T>G, XM_005251869.1:c.1965T>G, XM_047423137.1:c.1326T>G, XM_047423136.1:c.1776T>G

Select item 148005358711.

rs1480053587 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:71716541 (GRCh38)
9:74331457 (GRCh37)
Canonical SPDI:: NC_000009.12:71716540:T:C
Gene:: CEMIP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.71716541T>C, NC_000009.11:g.74331457T>C, NG_053053.1:g.57992A>G, NM_013390.3:c.2411A>G, NM_013390.2:c.2411A>G, NM_001349784.2:c.497A>G, NM_001349784.1:c.497A>G, NM_001135820.2:c.2222A>G, NM_001135820.1:c.2222A>G, XM_005251869.5:c.2411A>G, XM_005251869.4:c.2411A>G, XM_005251869.3:c.2411A>G, XM_005251869.2:c.2411A>G, XM_005251869.1:c.2411A>G, XM_047423137.1:c.1772A>G, XM_047423136.1:c.2222A>G, NP_037522.1:p.Asn804Ser, NP_001336713.1:p.Asn166Ser, NP_001129292.1:p.Asn741Ser, XP_005251926.1:p.Asn804Ser, XP_047279093.1:p.Asn591Ser, XP_047279092.1:p.Asn741Ser

Select item 147961584312.

rs1479615843 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:71725680 (GRCh38)
9:74340596 (GRCh37)
Canonical SPDI:: NC_000009.12:71725679:C:T
Gene:: CEMIP2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.71725680C>T, NC_000009.11:g.74340596C>T, NG_053053.1:g.48853G>A, NM_013390.3:c.2079G>A, NM_013390.2:c.2079G>A, NM_001349784.2:c.165G>A, NM_001349784.1:c.165G>A, NM_001135820.2:c.1890G>A, NM_001135820.1:c.1890G>A, XM_005251869.5:c.2079G>A, XM_005251869.4:c.2079G>A, XM_005251869.3:c.2079G>A, XM_005251869.2:c.2079G>A, XM_005251869.1:c.2079G>A, XM_047423137.1:c.1440G>A, XM_047423136.1:c.1890G>A

Select item 147959061313.

rs1479590613 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 9:71750158 (GRCh38)
9:74365074 (GRCh37)
Canonical SPDI:: NC_000009.12:71750156:TTT:T
Gene:: CEMIP2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,frameshift_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.71750158_71750159del, NC_000009.11:g.74365074_74365075del, NG_053053.1:g.24375_24376del, NM_013390.3:c.216_217del, NM_013390.2:c.216_217del, NM_001349784.2:c.-1665_-1664del, NM_001349784.1:c.-1665_-1664del, NM_001135820.2:c.216_217del, NM_001135820.1:c.216_217del, XM_005251869.5:c.216_217del, XM_005251869.4:c.216_217del, XM_005251869.3:c.216_217del, XM_005251869.2:c.216_217del, XM_005251869.1:c.216_217del, XM_047423136.1:c.216_217del, NP_037522.1:p.Gln74fs, NP_001129292.1:p.Gln74fs, XP_005251926.1:p.Gln74fs, XP_047279092.1:p.Gln74fs

Select item 147920780914.

rs1479207809 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 9:71745311 (GRCh38)
9:74360227 (GRCh37)
Canonical SPDI:: NC_000009.12:71745310:C:A,NC_000009.12:71745310:C:T
Gene:: CEMIP2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.71745311C>A, NC_000009.12:g.71745311C>T, NC_000009.11:g.74360227C>A, NC_000009.11:g.74360227C>T, NG_053053.1:g.29222G>T, NG_053053.1:g.29222G>A, NM_013390.3:c.741G>T, NM_013390.3:c.741G>A, NM_013390.2:c.741G>T, NM_013390.2:c.741G>A, NM_001349784.2:c.-1140G>T, NM_001349784.2:c.-1140G>A, NM_001349784.1:c.-1140G>T, NM_001349784.1:c.-1140G>A, NM_001135820.2:c.741G>T, NM_001135820.2:c.741G>A, NM_001135820.1:c.741G>T, NM_001135820.1:c.741G>A, XM_005251869.5:c.741G>T, XM_005251869.5:c.741G>A, XM_005251869.4:c.741G>T, XM_005251869.4:c.741G>A, XM_005251869.3:c.741G>T, XM_005251869.3:c.741G>A, XM_005251869.2:c.741G>T, XM_005251869.2:c.741G>A, XM_005251869.1:c.741G>T, XM_005251869.1:c.741G>A, XM_047423137.1:c.102G>T, XM_047423137.1:c.102G>A, XM_047423136.1:c.741G>T, XM_047423136.1:c.741G>A

Select item 147869088515.

rs1478690885 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:71709415 (GRCh38)
9:74324331 (GRCh37)
Canonical SPDI:: NC_000009.12:71709414:A:G
Gene:: CEMIP2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.71709415A>G, NC_000009.11:g.74324331A>G, NG_053053.1:g.65118T>C, NM_013390.3:c.2829T>C, NM_013390.2:c.2829T>C, NM_001349784.2:c.915T>C, NM_001349784.1:c.915T>C, NM_001135820.2:c.2640T>C, NM_001135820.1:c.2640T>C, XM_005251869.5:c.2829T>C, XM_005251869.4:c.2829T>C, XM_005251869.3:c.2829T>C, XM_005251869.2:c.2829T>C, XM_005251869.1:c.2829T>C, XM_047423137.1:c.2190T>C, XM_047423136.1:c.2640T>C

Select item 147709936516.

rs1477099365 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 9:71740188 (GRCh38)
9:74355104 (GRCh37)
Canonical SPDI:: NC_000009.12:71740187:G:C,NC_000009.12:71740187:G:T
Gene:: CEMIP2 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.71740188G>C, NC_000009.12:g.71740188G>T, NC_000009.11:g.74355104G>C, NC_000009.11:g.74355104G>T, NG_053053.1:g.34345C>G, NG_053053.1:g.34345C>A, NM_013390.3:c.1079C>G, NM_013390.3:c.1079C>A, NM_013390.2:c.1079C>G, NM_013390.2:c.1079C>A, NM_001349784.2:c.-802C>G, NM_001349784.2:c.-802C>A, NM_001349784.1:c.-802C>G, NM_001349784.1:c.-802C>A, NM_001135820.2:c.1079C>G, NM_001135820.2:c.1079C>A, NM_001135820.1:c.1079C>G, NM_001135820.1:c.1079C>A, XM_005251869.5:c.1079C>G, XM_005251869.5:c.1079C>A, XM_005251869.4:c.1079C>G, XM_005251869.4:c.1079C>A, XM_005251869.3:c.1079C>G, XM_005251869.3:c.1079C>A, XM_005251869.2:c.1079C>G, XM_005251869.2:c.1079C>A, XM_005251869.1:c.1079C>G, XM_005251869.1:c.1079C>A, XM_047423137.1:c.440C>G, XM_047423137.1:c.440C>A, XM_047423136.1:c.1079C>G, XM_047423136.1:c.1079C>A, NP_037522.1:p.Ser360Cys, NP_037522.1:p.Ser360Tyr, NP_001129292.1:p.Ser360Cys, NP_001129292.1:p.Ser360Tyr, XP_005251926.1:p.Ser360Cys, XP_005251926.1:p.Ser360Tyr, XP_047279093.1:p.Ser147Cys, XP_047279093.1:p.Ser147Tyr, XP_047279092.1:p.Ser360Cys, XP_047279092.1:p.Ser360Tyr

Select item 147673900517.

rs1476739005 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 9:71704699 (GRCh38)
9:74319615 (GRCh37)
Canonical SPDI:: NC_000009.12:71704698:G:A,NC_000009.12:71704698:G:C
Gene:: CEMIP2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.71704699G>A, NC_000009.12:g.71704699G>C, NC_000009.11:g.74319615G>A, NC_000009.11:g.74319615G>C, NG_053053.1:g.69834C>T, NG_053053.1:g.69834C>G, NM_013390.3:c.3090C>T, NM_013390.3:c.3090C>G, NM_013390.2:c.3090C>T, NM_013390.2:c.3090C>G, NM_001349784.2:c.1176C>T, NM_001349784.2:c.1176C>G, NM_001349784.1:c.1176C>T, NM_001349784.1:c.1176C>G, NM_001135820.2:c.2901C>T, NM_001135820.2:c.2901C>G, NM_001135820.1:c.2901C>T, NM_001135820.1:c.2901C>G, XM_005251869.5:c.3090C>T, XM_005251869.5:c.3090C>G, XM_005251869.4:c.3090C>T, XM_005251869.4:c.3090C>G, XM_005251869.3:c.3090C>T, XM_005251869.3:c.3090C>G, XM_005251869.2:c.3090C>T, XM_005251869.2:c.3090C>G, XM_005251869.1:c.3090C>T, XM_005251869.1:c.3090C>G, XM_047423137.1:c.2451C>T, XM_047423137.1:c.2451C>G, XM_047423136.1:c.2901C>T, XM_047423136.1:c.2901C>G

Select item 147663669218.

rs1476636692 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:71712189 (GRCh38)
9:74327105 (GRCh37)
Canonical SPDI:: NC_000009.12:71712188:T:C
Gene:: CEMIP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.71712189T>C, NC_000009.11:g.74327105T>C, NG_053053.1:g.62344A>G, NM_013390.3:c.2663A>G, NM_013390.2:c.2663A>G, NM_001349784.2:c.749A>G, NM_001349784.1:c.749A>G, NM_001135820.2:c.2474A>G, NM_001135820.1:c.2474A>G, XM_005251869.5:c.2663A>G, XM_005251869.4:c.2663A>G, XM_005251869.3:c.2663A>G, XM_005251869.2:c.2663A>G, XM_005251869.1:c.2663A>G, XM_047423137.1:c.2024A>G, XM_047423136.1:c.2474A>G, NP_037522.1:p.Tyr888Cys, NP_001336713.1:p.Tyr250Cys, NP_001129292.1:p.Tyr825Cys, XP_005251926.1:p.Tyr888Cys, XP_047279093.1:p.Tyr675Cys, XP_047279092.1:p.Tyr825Cys

Select item 147634683419.

rs1476346834 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:71745395 (GRCh38)
9:74360311 (GRCh37)
Canonical SPDI:: NC_000009.12:71745394:T:C
Gene:: CEMIP2 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.71745395T>C, NC_000009.11:g.74360311T>C, NG_053053.1:g.29138A>G, NM_013390.3:c.657A>G, NM_013390.2:c.657A>G, NM_001349784.2:c.-1224A>G, NM_001349784.1:c.-1224A>G, NM_001135820.2:c.657A>G, NM_001135820.1:c.657A>G, XM_005251869.5:c.657A>G, XM_005251869.4:c.657A>G, XM_005251869.3:c.657A>G, XM_005251869.2:c.657A>G, XM_005251869.1:c.657A>G, XM_047423137.1:c.18A>G, XM_047423136.1:c.657A>G

Select item 147630145920.

rs1476301459 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 9:71750341 (GRCh38)
9:74365257 (GRCh37)
Canonical SPDI:: NC_000009.12:71750340:A:T
Gene:: CEMIP2 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,synonymous_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.71750341A>T, NC_000009.11:g.74365257A>T, NG_053053.1:g.24192T>A, NM_013390.3:c.33T>A, NM_013390.2:c.33T>A, NM_001349784.2:c.-1848T>A, NM_001349784.1:c.-1848T>A, NM_001135820.2:c.33T>A, NM_001135820.1:c.33T>A, XM_005251869.5:c.33T>A, XM_005251869.4:c.33T>A, XM_005251869.3:c.33T>A, XM_005251869.2:c.33T>A, XM_005251869.1:c.33T>A, XM_047423136.1:c.33T>A

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