SNP Links for Protein (Select 1059194768) - SNP

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:2520799 (GRCh38)
16:2570800 (GRCh37)
Canonical SPDI:: NC_000016.10:2520798:C:T
Gene:: AMDHD2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.2520799C>T, NC_000016.9:g.2570800C>T, NM_015944.4:c.114C>T, NM_015944.3:c.114C>T, XM_017023264.3:c.114C>T, NM_001330449.2:c.114C>T, NM_001330449.1:c.114C>T, NM_001145815.2:c.114C>T, NM_001145815.1:c.114C>T, NM_001410943.1:c.114C>T

Select item 146901307715.

rs1469013077 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:2527568 (GRCh38)
16:2577569 (GRCh37)
Canonical SPDI:: NC_000016.10:2527567:C:T
Gene:: AMDHD2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.2527568C>T, NC_000016.9:g.2577569C>T, NM_015944.4:c.368C>T, NM_015944.3:c.368C>T, XM_017023267.3:c.-341C>T, XM_017023267.2:c.-341C>T, XM_017023267.1:c.-341C>T, XM_017023264.3:c.368C>T, XM_017023266.3:c.-30C>T, XM_017023266.2:c.-30C>T, XM_017023266.1:c.-30C>T, NM_001330449.2:c.368C>T, NM_001330449.1:c.368C>T, NM_001145815.2:c.368C>T, NM_001145815.1:c.368C>T, NM_001410943.1:c.368C>T, XM_047434190.1:c.-30C>T, NP_057028.2:p.Pro123Leu, XP_016878753.1:p.Pro123Leu, NP_001317378.1:p.Pro123Leu, NP_001139287.1:p.Pro123Leu

Select item 146848157416.

rs1468481574 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 16:2520985 (GRCh38)
16:2570986 (GRCh37)
Canonical SPDI:: NC_000016.10:2520984:T:G
Gene:: AMDHD2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,synonymous_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by cluster
MAF:: G=0.0061/11 (Korea1K)
HGVS:: NC_000016.10:g.2520985T>G, NC_000016.9:g.2570986T>G, NM_015944.4:c.222T>G, NM_015944.3:c.222T>G, XM_017023267.3:c.-487T>G, XM_017023267.2:c.-487T>G, XM_017023267.1:c.-487T>G, XM_017023264.3:c.222T>G, NM_001330449.2:c.222T>G, NM_001330449.1:c.222T>G, NM_001145815.2:c.222T>G, NM_001145815.1:c.222T>G, NM_001410943.1:c.222T>G

Select item 146731028017.

rs1467310280 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:2529549 (GRCh38)
16:2579550 (GRCh37)
Canonical SPDI:: NC_000016.10:2529548:G:A
Gene:: AMDHD2 (Varview), CEMP1 (Varview)
Functional Consequence:: 500B_downstream_variant,intron_variant,downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.2529549G>A, NC_000016.9:g.2579550G>A, NM_015944.4:c.1306G>A, NM_015944.3:c.1306G>A, XM_017023267.3:c.598G>A, XM_017023267.2:c.598G>A, XM_017023267.1:c.598G>A, XM_017023264.3:c.1147G>A, XM_017023266.3:c.817G>A, XM_017023266.2:c.817G>A, XM_017023266.1:c.817G>A, NM_001330449.2:c.1216G>A, NM_001330449.1:c.1216G>A, NM_001410943.1:c.1147G>A, XM_047434190.1:c.727G>A, NP_057028.2:p.Ala436Thr, XP_016878756.1:p.Ala200Thr, XP_016878753.1:p.Ala383Thr, XP_016878755.1:p.Ala273Thr, NP_001317378.1:p.Ala406Thr, XP_047290146.1:p.Ala243Thr

Select item 146214708618.

rs1462147086 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:2529081 (GRCh38)
16:2579082 (GRCh37)
Canonical SPDI:: NC_000016.10:2529080:T:C
Gene:: AMDHD2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000016.10:g.2529081T>C, NC_000016.9:g.2579082T>C, NM_015944.4:c.1217T>C, NM_015944.3:c.1217T>C, XM_017023267.3:c.509T>C, XM_017023267.2:c.509T>C, XM_017023267.1:c.509T>C, XM_017023264.3:c.1058T>C, XM_017023266.3:c.728T>C, XM_017023266.2:c.728T>C, XM_017023266.1:c.728T>C, NM_001330449.2:c.1127T>C, NM_001330449.1:c.1127T>C, NM_001145815.2:c.1217T>C, NM_001145815.1:c.1217T>C, NM_001410943.1:c.1058T>C, XM_047434190.1:c.638T>C, NP_057028.2:p.Phe406Ser, XP_016878756.1:p.Phe170Ser, XP_016878753.1:p.Phe353Ser, XP_016878755.1:p.Phe243Ser, NP_001317378.1:p.Phe376Ser, NP_001139287.1:p.Phe406Ser, XP_047290146.1:p.Phe213Ser

Select item 146034964819.

rs1460349648 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 16:2520488 (GRCh38)
16:2570489 (GRCh37)
Canonical SPDI:: NC_000016.10:2520487:C:G,NC_000016.10:2520487:C:T
Gene:: ATP6V0C (Varview), AMDHD2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,synonymous_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000016.10:g.2520488C>G, NC_000016.10:g.2520488C>T, NC_000016.9:g.2570489C>G, NC_000016.9:g.2570489C>T, NM_015944.4:c.30C>G, NM_015944.4:c.30C>T, NM_015944.3:c.30C>G, NM_015944.3:c.30C>T, XM_017023267.3:c.-542C>G, XM_017023267.3:c.-542C>T, XM_017023267.2:c.-542C>G, XM_017023267.2:c.-542C>T, XM_017023267.1:c.-542C>G, XM_017023267.1:c.-542C>T, XM_017023264.3:c.30C>G, XM_017023264.3:c.30C>T, NM_001330449.2:c.30C>G, NM_001330449.2:c.30C>T, NM_001330449.1:c.30C>G, NM_001330449.1:c.30C>T, NM_001145815.2:c.30C>G, NM_001145815.2:c.30C>T, NM_001145815.1:c.30C>G, NM_001145815.1:c.30C>T, NM_001410943.1:c.30C>G, NM_001410943.1:c.30C>T

Select item 145960240820.

rs1459602408 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 16:2527894 (GRCh38)
16:2577895 (GRCh37)
Canonical SPDI:: NC_000016.10:2527893:C:G,NC_000016.10:2527893:C:T
Gene:: AMDHD2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.2527894C>G, NC_000016.10:g.2527894C>T, NC_000016.9:g.2577895C>G, NC_000016.9:g.2577895C>T, NM_015944.4:c.537C>G, NM_015944.4:c.537C>T, NM_015944.3:c.537C>G, NM_015944.3:c.537C>T, XM_017023267.3:c.-172C>G, XM_017023267.3:c.-172C>T, XM_017023267.2:c.-172C>G, XM_017023267.2:c.-172C>T, XM_017023267.1:c.-172C>G, XM_017023267.1:c.-172C>T, XM_017023264.3:c.537C>G, XM_017023264.3:c.537C>T, XM_017023266.3:c.48C>G, XM_017023266.3:c.48C>T, XM_017023266.2:c.48C>G, XM_017023266.2:c.48C>T, XM_017023266.1:c.48C>G, XM_017023266.1:c.48C>T, NM_001330449.2:c.537C>G, NM_001330449.2:c.537C>T, NM_001330449.1:c.537C>G, NM_001330449.1:c.537C>T, NM_001145815.2:c.537C>G, NM_001145815.2:c.537C>T, NM_001145815.1:c.537C>G, NM_001145815.1:c.537C>T, NM_001410943.1:c.537C>G, NM_001410943.1:c.537C>T, XM_047434190.1:c.48C>G, XM_047434190.1:c.48C>T, NP_057028.2:p.Asp179Glu, XP_016878753.1:p.Asp179Glu, XP_016878755.1:p.Asp16Glu, NP_001317378.1:p.Asp179Glu, NP_001139287.1:p.Asp179Glu, XP_047290146.1:p.Asp16Glu

dbSNP