SNP Links for Protein (Select 188035928) - SNP

Links from Protein

Items: 1 to 20 of 171

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Select item 14876984521.

rs1487698452 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:71110081 (GRCh38)
2:71337211 (GRCh37)
Canonical SPDI:: NC_000002.12:71110080:C:T
Gene:: MCEE (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.71110081C>T, NC_000002.11:g.71337211C>T, NG_008977.1:g.25184G>A, NM_032601.4:c.420G>A, NM_032601.3:c.420G>A, XM_005264613.3:c.258G>A, XM_005264613.2:c.258G>A, XM_005264613.1:c.258G>A

Select item 14860534912.

rs1486053491 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:71124522 (GRCh38)
2:71351652 (GRCh37)
Canonical SPDI:: NC_000002.12:71124521:G:A
Gene:: MCEE (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000002.12:g.71124522G>A, NC_000002.11:g.71351652G>A, NG_008977.1:g.10743C>T, NM_032601.4:c.62C>T, NM_032601.3:c.62C>T, XM_005264613.3:c.62C>T, XM_005264613.2:c.62C>T, XM_005264613.1:c.62C>T, XM_047446039.1:c.62C>T, NP_115990.3:p.Ala21Val, XP_005264670.1:p.Ala21Val, XP_047301995.1:p.Ala21Val

Select item 14857085843.

rs1485708584 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:71110017 (GRCh38)
2:71337147 (GRCh37)
Canonical SPDI:: NC_000002.12:71110016:G:A,NC_000002.12:71110016:G:T
Gene:: MCEE (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
T=0.000546/1 (Korea1K)
HGVS:: NC_000002.12:g.71110017G>A, NC_000002.12:g.71110017G>T, NC_000002.11:g.71337147G>A, NC_000002.11:g.71337147G>T, NG_008977.1:g.25248C>T, NG_008977.1:g.25248C>A, NM_032601.4:c.484C>T, NM_032601.4:c.484C>A, NM_032601.3:c.484C>T, NM_032601.3:c.484C>A, XM_005264613.3:c.322C>T, XM_005264613.3:c.322C>A, XM_005264613.2:c.322C>T, XM_005264613.2:c.322C>A, XM_005264613.1:c.322C>T, XM_005264613.1:c.322C>A, NP_115990.3:p.His162Tyr, NP_115990.3:p.His162Asn, XP_005264670.1:p.His108Tyr, XP_005264670.1:p.His108Asn

Select item 14853852774.

rs1485385277 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:71124423 (GRCh38)
2:71351553 (GRCh37)
Canonical SPDI:: NC_000002.12:71124422:G:A,NC_000002.12:71124422:G:C
Gene:: MCEE (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
A=0.000106/2 (TOMMO)
HGVS:: NC_000002.12:g.71124423G>A, NC_000002.12:g.71124423G>C, NC_000002.11:g.71351553G>A, NC_000002.11:g.71351553G>C, NG_008977.1:g.10842C>T, NG_008977.1:g.10842C>G, NM_032601.4:c.161C>T, NM_032601.4:c.161C>G, NM_032601.3:c.161C>T, NM_032601.3:c.161C>G, XM_005264613.3:c.161C>T, XM_005264613.3:c.161C>G, XM_005264613.2:c.161C>T, XM_005264613.2:c.161C>G, XM_005264613.1:c.161C>T, XM_005264613.1:c.161C>G, XM_047446039.1:c.161C>T, XM_047446039.1:c.161C>G, NP_115990.3:p.Ala54Val, NP_115990.3:p.Ala54Gly, XP_005264670.1:p.Ala54Val, XP_005264670.1:p.Ala54Gly, XP_047301995.1:p.Ala54Val, XP_047301995.1:p.Ala54Gly

Select item 14851063245.

rs1485106324 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:71124510 (GRCh38)
2:71351640 (GRCh37)
Canonical SPDI:: NC_000002.12:71124509:G:A
Gene:: MCEE (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000546/1 (Korea1K)
HGVS:: NC_000002.12:g.71124510G>A, NC_000002.11:g.71351640G>A, NG_008977.1:g.10755C>T, NM_032601.4:c.74C>T, NM_032601.3:c.74C>T, XM_005264613.3:c.74C>T, XM_005264613.2:c.74C>T, XM_005264613.1:c.74C>T, XM_047446039.1:c.74C>T, NP_115990.3:p.Thr25Ile, XP_005264670.1:p.Thr25Ile, XP_047301995.1:p.Thr25Ile

Select item 14745223176.

rs1474522317 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:71124436 (GRCh38)
2:71351566 (GRCh37)
Canonical SPDI:: NC_000002.12:71124435:G:T
Gene:: MCEE (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.71124436G>T, NC_000002.11:g.71351566G>T, NG_008977.1:g.10829C>A, NM_032601.4:c.148C>A, NM_032601.3:c.148C>A, XM_005264613.3:c.148C>A, XM_005264613.2:c.148C>A, XM_005264613.1:c.148C>A, XM_047446039.1:c.148C>A, NP_115990.3:p.His50Asn, XP_005264670.1:p.His50Asn, XP_047301995.1:p.His50Asn

Select item 14732954627.

rs1473295462 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:71130186 (GRCh38)
2:71357316 (GRCh37)
Canonical SPDI:: NC_000002.12:71130185:C:A
Gene:: MPHOSPH10 (Varview), MCEE (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,2KB_upstream_variant,upstream_transcript_variant
HGVS:: NC_000002.12:g.71130186C>A, NC_000002.11:g.71357316C>A, NG_008977.1:g.5079G>T, NM_032601.4:c.34G>T, NM_032601.3:c.34G>T, XM_005264613.3:c.34G>T, XM_005264613.2:c.34G>T, XM_005264613.1:c.34G>T, XM_047446039.1:c.34G>T, NP_115990.3:p.Ala12Ser, XP_005264670.1:p.Ala12Ser, XP_047301995.1:p.Ala12Ser

Select item 14703999008.

rs1470399900 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:71124461 (GRCh38)
2:71351591 (GRCh37)
Canonical SPDI:: NC_000002.12:71124460:A:G
Gene:: MCEE (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000002.12:g.71124461A>G, NC_000002.11:g.71351591A>G, NG_008977.1:g.10804T>C, NM_032601.4:c.123T>C, NM_032601.3:c.123T>C, XM_005264613.3:c.123T>C, XM_005264613.2:c.123T>C, XM_005264613.1:c.123T>C, XM_047446039.1:c.123T>C

Select item 14627940409.

rs1462794040 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:71124355 (GRCh38)
2:71351485 (GRCh37)
Canonical SPDI:: NC_000002.12:71124354:C:A
Gene:: MCEE (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.71124355C>A, NC_000002.11:g.71351485C>A, NG_008977.1:g.10910G>T, NM_032601.4:c.229G>T, NM_032601.3:c.229G>T, XM_047446039.1:c.229G>T, NP_115990.3:p.Val77Phe, XP_047301995.1:p.Val77Phe

Select item 146176642910.

rs1461766429 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:71109973 (GRCh38)
2:71337103 (GRCh37)
Canonical SPDI:: NC_000002.12:71109972:A:G
Gene:: MCEE (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.71109973A>G, NC_000002.11:g.71337103A>G, NG_008977.1:g.25292T>C, NM_032601.4:c.528T>C, NM_032601.3:c.528T>C, XM_005264613.3:c.366T>C, XM_005264613.2:c.366T>C, XM_005264613.1:c.366T>C

Select item 143662753611.

rs1436627536 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 2:71110098 (GRCh38)
2:71337228 (GRCh37)
Canonical SPDI:: NC_000002.12:71110097:T:A,NC_000002.12:71110097:T:C
Gene:: MCEE (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.71110098T>A, NC_000002.12:g.71110098T>C, NC_000002.11:g.71337228T>A, NC_000002.11:g.71337228T>C, NG_008977.1:g.25167A>T, NG_008977.1:g.25167A>G, NM_032601.4:c.403A>T, NM_032601.4:c.403A>G, NM_032601.3:c.403A>T, NM_032601.3:c.403A>G, XM_005264613.3:c.241A>T, XM_005264613.3:c.241A>G, XM_005264613.2:c.241A>T, XM_005264613.2:c.241A>G, XM_005264613.1:c.241A>T, XM_005264613.1:c.241A>G, NP_115990.3:p.Met135Leu, NP_115990.3:p.Met135Val, XP_005264670.1:p.Met81Leu, XP_005264670.1:p.Met81Val

Select item 143353941312.

rs1433539413 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:71124455 (GRCh38)
2:71351585 (GRCh37)
Canonical SPDI:: NC_000002.12:71124454:C:T
Gene:: MCEE (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.71124455C>T, NC_000002.11:g.71351585C>T, NG_008977.1:g.10810G>A, NM_032601.4:c.129G>A, NM_032601.3:c.129G>A, XM_005264613.3:c.129G>A, XM_005264613.2:c.129G>A, XM_005264613.1:c.129G>A, XM_047446039.1:c.129G>A, NP_115990.3:p.Trp43Ter, XP_005264670.1:p.Trp43Ter, XP_047301995.1:p.Trp43Ter

Select item 142144962913.

rs1421449629 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:71124452 (GRCh38)
2:71351582 (GRCh37)
Canonical SPDI:: NC_000002.12:71124451:G:C
Gene:: MCEE (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.71124452G>C, NC_000002.11:g.71351582G>C, NG_008977.1:g.10813C>G, NM_032601.4:c.132C>G, NM_032601.3:c.132C>G, XM_005264613.3:c.132C>G, XM_005264613.2:c.132C>G, XM_005264613.1:c.132C>G, XM_047446039.1:c.132C>G, NP_115990.3:p.Asn44Lys, XP_005264670.1:p.Asn44Lys, XP_047301995.1:p.Asn44Lys

Select item 141971546614.

rs1419715466 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:71124255 (GRCh38)
2:71351385 (GRCh37)
Canonical SPDI:: NC_000002.12:71124254:C:T
Gene:: MCEE (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.71124255C>T, NC_000002.11:g.71351385C>T, NG_008977.1:g.11010G>A, NM_032601.4:c.329G>A, NM_032601.3:c.329G>A, XM_047446039.1:c.329G>A, NP_115990.3:p.Gly110Asp, XP_047301995.1:p.Gly110Asp

Select item 140354099815.

rs1403540998 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:71124469 (GRCh38)
2:71351599 (GRCh37)
Canonical SPDI:: NC_000002.12:71124468:T:A
Gene:: MCEE (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000031/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.71124469T>A, NC_000002.11:g.71351599T>A, NG_008977.1:g.10796A>T, NM_032601.4:c.115A>T, NM_032601.3:c.115A>T, XM_005264613.3:c.115A>T, XM_005264613.2:c.115A>T, XM_005264613.1:c.115A>T, XM_047446039.1:c.115A>T, NP_115990.3:p.Thr39Ser, XP_005264670.1:p.Thr39Ser, XP_047301995.1:p.Thr39Ser

Select item 140080616816.

rs1400806168 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:71110116 (GRCh38)
2:71337246 (GRCh37)
Canonical SPDI:: NC_000002.12:71110115:T:C
Gene:: MCEE (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_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_000002.12:g.71110116T>C, NC_000002.11:g.71337246T>C, NG_008977.1:g.25149A>G, NM_032601.4:c.385A>G, NM_032601.3:c.385A>G, XM_005264613.3:c.223A>G, XM_005264613.2:c.223A>G, XM_005264613.1:c.223A>G, NP_115990.3:p.Asn129Asp, XP_005264670.1:p.Asn75Asp

Select item 139886094217.

rs1398860942 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:71124386 (GRCh38)
2:71351516 (GRCh37)
Canonical SPDI:: NC_000002.12:71124385:C:T
Gene:: MCEE (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.71124386C>T, NC_000002.11:g.71351516C>T, NG_008977.1:g.10879G>A, NM_032601.4:c.198G>A, NM_032601.3:c.198G>A, XM_005264613.3:c.198G>A, XM_005264613.2:c.198G>A, XM_005264613.1:c.198G>A, XM_047446039.1:c.198G>A

Select item 138815485318.

rs1388154853 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:71124276 (GRCh38)
2:71351406 (GRCh37)
Canonical SPDI:: NC_000002.12:71124275:C:A
Gene:: MCEE (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.71124276C>A, NC_000002.11:g.71351406C>A, NG_008977.1:g.10989G>T, NM_032601.4:c.308G>T, NM_032601.3:c.308G>T, XM_047446039.1:c.308G>T, NP_115990.3:p.Gly103Val, XP_047301995.1:p.Gly103Val

Select item 138804120219.

rs1388041202 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:71124460 (GRCh38)
2:71351590 (GRCh37)
Canonical SPDI:: NC_000002.12:71124459:C:T
Gene:: MCEE (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_000002.12:g.71124460C>T, NC_000002.11:g.71351590C>T, NG_008977.1:g.10805G>A, NM_032601.4:c.124G>A, NM_032601.3:c.124G>A, XM_005264613.3:c.124G>A, XM_005264613.2:c.124G>A, XM_005264613.1:c.124G>A, XM_047446039.1:c.124G>A, NP_115990.3:p.Val42Met, XP_005264670.1:p.Val42Met, XP_047301995.1:p.Val42Met

Select item 138332187520.

rs1383321875 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:71109975 (GRCh38)
2:71337105 (GRCh37)
Canonical SPDI:: NC_000002.12:71109974:C:T
Gene:: MCEE (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.71109975C>T, NC_000002.11:g.71337105C>T, NG_008977.1:g.25290G>A, NM_032601.4:c.526G>A, NM_032601.3:c.526G>A, XM_005264613.3:c.364G>A, XM_005264613.2:c.364G>A, XM_005264613.1:c.364G>A, NP_115990.3:p.Ala176Thr, XP_005264670.1:p.Ala122Thr

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