Product Details

SNP ID

rs183456814

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:23534371 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATATGTGGCTCCTCTCCTTTCACAC[C/T]GTAAGTGCTCTGGATAACAGGCATC

Phenotype

MIM: 604975

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

SOX5 PubMed Links

Gene Details

Gene

SOX5

Gene Name

SRY-box 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001261414.1	2287	Missense Mutation	AGT,GGT	S593G	NP_001248343.1
NM_001261415.1	2287	Missense Mutation	AGT,GGT	S704G	NP_001248344.1
NM_006940.4	2287	Missense Mutation	AGT,GGT	S714G	NP_008871.3
NM_152989.3	2287	Missense Mutation	AGT,GGT	S701G	NP_694534.1
NM_178010.2	2287	Missense Mutation	AGT,GGT	S328G	NP_821078.1
XM_011520831.2	2287	Missense Mutation	AGT,GGT	S679G	XP_011519133.1
XM_011520832.2	2287	Missense Mutation	AGT,GGT	S715G	XP_011519134.1
XM_011520833.2	2287	Missense Mutation	AGT,GGT	S705G	XP_011519135.1
XM_011520834.2	2287	Missense Mutation	AGT,GGT	S702G	XP_011519136.1
XM_011520835.2	2287	Missense Mutation	AGT,GGT	S702G	XP_011519137.1
XM_011520837.2	2287	Missense Mutation	AGT,GGT	S702G	XP_011519139.1
XM_011520838.2	2287	Missense Mutation	AGT,GGT	S680G	XP_011519140.1
XM_011520842.2	2287	Missense Mutation	AGT,GGT	S366G	XP_011519144.1
XM_017019888.1	2287	Missense Mutation	AGT,GGT	S744G	XP_016875377.1
XM_017019889.1	2287	Missense Mutation	AGT,GGT	S743G	XP_016875378.1
XM_017019890.1	2287	Missense Mutation	AGT,GGT	S702G	XP_016875379.1
XM_017019891.1	2287	Missense Mutation	AGT,GGT	S702G	XP_016875380.1
XM_017019892.1	2287	Missense Mutation	AGT,GGT	S702G	XP_016875381.1
XM_017019893.1	2287	Missense Mutation	AGT,GGT	S702G	XP_016875382.1
XM_017019894.1	2287	Missense Mutation	AGT,GGT	S702G	XP_016875383.1
XM_017019895.1	2287	Missense Mutation	AGT,GGT	S702G	XP_016875384.1
XM_017019896.1	2287	Missense Mutation	AGT,GGT	S701G	XP_016875385.1
XM_017019897.1	2287	Missense Mutation	AGT,GGT	S667G	XP_016875386.1
XM_017019898.1	2287	Missense Mutation	AGT,GGT	S666G	XP_016875387.1
XM_017019899.1	2287	Missense Mutation	AGT,GGT	S666G	XP_016875388.1
XM_017019900.1	2287	Missense Mutation	AGT,GGT	S666G	XP_016875389.1
XM_017019901.1	2287	Missense Mutation	AGT,GGT	S666G	XP_016875390.1
XM_017019902.1	2287	Intron			XP_016875391.1
XM_017019903.1	2287	Intron			XP_016875392.1

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